Canonical Allele Identifier: CA2620428720

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101761455-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761455T>C , CM000674.2:g.101761455T>C	GRCh38
NC_000012.11:g.102155233T>C , CM000674.1:g.102155233T>C	GRCh37
NC_000012.10:g.100679364T>C	NCBI36
NG_021243.1:g.74413A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2916-109A>G MANE Select	ENSP00000299314.7:n.2916-109A>G
ENST00000299314.11:c.2916-109A>G	ENSP00000299314.7:n.2916-109A>G
NM_024312.4:c.2916-109A>G	NP_077288.2:n.2916-109A>G
XM_006719593.2:c.2916-109A>G	XP_006719656.1:n.2916-109A>G
XM_011538731.1:c.2835-109A>G	XP_011537033.1:n.2835-109A>G
XM_006719593.3:c.2916-109A>G	XP_006719656.1:n.2916-109A>G
XM_011538731.2:c.2835-109A>G	XP_011537033.1:n.2835-109A>G
XM_017019961.1:c.2700-109A>G	XP_016875450.1:n.2700-109A>G
XM_017019962.2:c.1689-109A>G	XP_016875451.1:n.1689-109A>G
NM_024312.5:c.2916-109A>G MANE Select	NP_077288.2:n.2916-109A>G